ESPE Abstracts

Background: The PAX8 gene (Paired box gene 8) is located on the long arm of chromosome 2 (2q12–q14), contains 12 exons and encodes a similarly named PAX8 protein. This protein is a transcription factor which in the thyroid gland is essential for the follicular cells formation and takes part in the expression of the thyroid-specific genes (TG, TPO, and SLC5A5). Variants in the gene have been previously associated with autosomal dominant thyroid dysgenesis...

Introduction: Over recent years, hyperinsulinaemic hypoglycaemia is being increasingly recognised in at-risk neonates; it is important to recognise and manage this promptly in view of the risk of hypoglycaemic brain injury.Aims: To recognise signs and symptoms of hypoglycaemia in neonates with hyperinsulinaemic hypoglycaemia.Methods: Neonates from the neonatal intensive care units ...

Back ground: The incidence rate of vitamin D deficiency is increasing throughout the world in recent years, but the rate of vitamin D deficiency in Japan is unknown.Aims: We measured the incidence rate of vitamin D deficiency in 12-year old children in Japan.Methods: A total of 492 children (247 boys and 245 girls) from one Japanese community enrolled in this study. At age 12, 25 hydroxyvitamin D (25OHD) were measured in all childr...

Background and Aims: Central Precocious Puberty (CPP) caused by the early activation of the hypothalamic-pituitary-gonadal axis is a rare affection that occurs in 0.2% in girls. Clinical signs are suggestive and LHRH-test could be sometimes difficult to use and not always contributive. Gonadotropin assay in twenty-four hours-urinary collection could be an interesting option. The present work intended to evaluate the diagnostic interest of 24-hour urinary gonad...

The melanocortin-4 receptor (MC4R) pathway is critical for the regulation of hunger, energy balance, and weight regulation. Individuals who carry variants in MC4R pathway genes may present with early-onset severe obesity and hyperphagia. Historically, genetic testing in individuals with severe obesity has been limited. The Rare Obesity Advanced Diagnosis™ genetic testing program aims to enhance access to genetic testing for European individuals with suspected rare geneti...

Introduction and aims: MEST (Mesoderm-specific transcript), a candidate gene for Silver-Russell syndrome, is a paternally expressed imprinted gene that positively regulates foetal growth. MEST has also been shown to promote adipose tissue expansion in conditions of positive energy balance. In this context, our objective was to study the possible relationship between placental MEST gene expression and postnatal growth and obesity para...

Background: Hypoglycemia etiology in children is heterogeneous and varies by age. Both growth hormone (GH) and cortisol deficiencies may present with hypoglycemia; the latter may result in an adrenal crisis that may be fatal.Objectives: To evaluate responses of cortisol and GH to spontaneous hypoglycemia in infants and children, and to assess the rate of true cortisol deficiency in children, defined as cortisol<500 nm...

Introduction: Congenital adrenal hyperplasia (CAH) is a lifelong condition associated with long term medical and psychosocial issues, which can adversely affect Quality of Life (QoL). There is paucity of high-grade evidence on health-related QoL in children and adolescents with CAH, with available studies being limited by small study samples. We conducted a systematic-review(SR) and meta-analysis(MA) to assess factors associated with health-related QoL among c...

Introduction: Telemedicine was adopted during the lockdown due to the COVID-19 pandemic in the follow-up of patients with type 1 diabetes (T1D). Because of its potential to reinforce self-management support outside health care settings it was used still after the lockdown.Objectives: Longitudinal and observational study aimed to investigate effectiveness of telemedicine in the follow-up of young people with T1D over the ...

Introduction: HNF1B gene (OMIM*189907) encodes the transcription factor HNF1B, which is expressed early in embryogenesis, controls gene expression and is involved in multiple tissue and organ development. Mutations of HNF1B account for a complex disorder with multisystemic manifestations (Renal Cysts and Diabetes syndrome, OMIM #137920). Congenital urinary tract abnormalities and HNF1B MODY, a rare cause of diabetes mellitus (DM) (≤5% of M...